A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia

por De Mingo Alemany, María Carmen, Mifsud Grau, Luis, Moreno Macián, Francisca, Ferrer Lorente, Belén, León Cariñena, Sara
Publicado 2020

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

por D. Hidalgo-Santos, Antonio, del Carmen DeMingo-Alemany, Maria, Moreno-Macián, Francisca, Roselló, Mónica, Orellana, Carmen, Martínez, Francisco, Caro-Llopis, Alfonso, León-Cariñena, Sara, Tomás-Vila, Miguel
Publicado 2018